Ignite Creation Date:
2025-12-24 @ 6:37 PM
Ignite Modification Date:
2025-12-30 @ 9:10 PM
Study NCT ID:
NCT04731857
Status:
RECRUITING
Last Update Posted:
2025-03-30
First Post:
2021-01-26
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D020022', 'term': 'Genetic Predisposition to Disease'}, {'id': 'D000096442', 'term': 'Genetic Risk Score'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D004198', 'term': 'Disease Susceptibility'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 12000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-02-18', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03', 'completionDateStruct': {'date': '2027-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-03-25', 'studyFirstSubmitDate': '2021-01-26', 'studyFirstSubmitQcDate': '2021-01-26', 'lastUpdatePostDateStruct': {'date': '2025-03-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-02-01', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Diagnosis', 'timeFrame': 'Day 1', 'description': 'Number of established probable diagnosis using molecular genetic diagnostics'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Rare Diseases', 'Genetic Predisposition', 'Next Generation Sequencing (NGS)', 'Polygenic risk scores (PRSs)', 'Repeat-Expansion', 'Genetic variation'], 'conditions': ['Rare Diseases', 'Genetic Predisposition']}, 'descriptionModule': {'briefSummary': 'For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.', 'detailedDescription': 'The methodological developments of the last few years allow the broad use of next-generation-sequencing (NGS) -based methods in the routine molecular genetic diagnosis of genetic diseases.The aim of the retrospective data analysis is to create a solid data basis for further discussion regarding the development and mapping of diagnostic algorithms and subsequent supply routes. For the genome data, this evaluation is to be expanded to include the evaluation of the Polygenic risk scores (PRSs) in the sense of an additional finding.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with genetic diseases of any age and, if present, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient with genetic disease or\n* Family members\n* Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen\n\nExclusion Criteria:\n\n\\- None'}, 'identificationModule': {'nctId': 'NCT04731857', 'acronym': 'EXGEFATU', 'briefTitle': 'Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Tuebingen'}, 'officialTitle': 'Diagnostic Value of Exome and Genome Sequencing As Well As Conventional Methods in Rare Diseases and Familial Tumor Syndromes', 'orgStudyIdInfo': {'id': 'EXGEFATU'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Genetic diseases', 'description': 'For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.', 'interventionNames': ['Genetic: Retrospective data analysis']}], 'interventions': [{'name': 'Retrospective data analysis', 'type': 'GENETIC', 'description': 'The outlined evaluation contributes to the improvement of molecular genetic diagnostics in patient care - for example when which diagnostics can be sensibly recommended for patients with which indications or not. Diagnostic gaps can be systematically evaluated and specifically addressed in the future. This potentially affects every examination assignment for current and future patients. In addition, the evaluation of the PRSs for example, can contribute significantly to the timely introduction to routine diagnostics. For familial breast cancer, according to the guidelines, there may be very specific preventive measures. Estimates currently assume up to 5% of patients, which would mean up to 25 cases per year with a potentially adapted management for patients with the question of a tumor disease alone.', 'armGroupLabels': ['Genetic diseases']}]}, 'contactsLocationsModule': {'locations': [{'zip': '72076', 'city': 'Tübingen', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Haack Tobias, Dr.', 'role': 'CONTACT', 'email': 'tobias.haack@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72696'}, {'name': 'Olaf Rieß, Prof. Dr.', 'role': 'CONTACT', 'email': 'olaf.riess@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72323'}], 'facility': 'University Hospital Tübingen', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}], 'centralContacts': [{'name': 'Tobias Haack, Dr.', 'role': 'CONTACT', 'email': 'tobias.haack@med.uni-tuebingen.de', 'phone': '+49 7071 298', 'phoneExt': '77696'}, {'name': 'Olaf Rieß, Prof. Dr.', 'role': 'CONTACT', 'email': 'olaf.riess@med.uni-tuebingen.de', 'phone': '+49 7071 298', 'phoneExt': '72288'}], 'overallOfficials': [{'name': 'Tobias Haack, Dr.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital Tübingen'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Tuebingen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}